2024
DOI: 10.1172/jci172057
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Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies

Gonzalo P. Solis,
Alexey Koval,
Jana Valnohova
et al.

Abstract: GNAO1 mutated in pediatric encephalopathies encodes the major neuronal G protein Gαo. Of the more than 80 pathogenic mutations, most are single amino acid substitutions spreading across the Gαo sequence. We performed extensive characterization of Gαo mutants, showing abnormal GTP uptake and hydrolysis and deficiencies in binding Gβγ and RGS19. Plasma membrane localization of Gαo was decreased for a subset of mutations that leads to epilepsy; dominant interactions with GPCRs also emerged for the more… Show more

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